Canonical Allele Identifier: CA4662333

Gene: HR

Linked Data

• dbSNP Id: rs200843097
• ExAC: 8:21981219 G / A
• gnomAD v2: 8-21981219-G-A
• gnomAD v3: 8-22123706-G-A
• gnomAD v4: 8-22123706-G-A
• MyVariant Identifiers: chr8:g.21981219G>A (hg19) ; chr8:g.22123706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123706G>A , CM000670.2:g.22123706G>A	GRCh38
NC_000008.10:g.21981219G>A , CM000670.1:g.21981219G>A	GRCh37
NC_000008.9:g.22037164G>A	NCBI36
NG_008166.1:g.11812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1858C>T MANE Select	ENSP00000370826.4:p.Arg620Trp
ENST00000680789.1:c.1858C>T	ENSP00000505181.1:p.Arg620Trp
ENST00000312841.9:c.1858C>T	ENSP00000326765.8:p.Arg620Trp
ENST00000381418.8:c.1858C>T	ENSP00000370826.4:p.Arg620Trp
NM_005144.4:c.1858C>T	NP_005135.2:p.Arg620Trp
NM_018411.4:c.1858C>T	NP_060881.2:p.Arg620Trp
XM_005273569.1:c.1861C>T	XP_005273626.1:p.Arg621Trp
XM_006716367.1:c.1861C>T	XP_006716430.1:p.Arg621Trp
XM_005273569.2:c.1861C>T	XP_005273626.1:p.Arg621Trp
XM_006716367.2:c.1861C>T	XP_006716430.1:p.Arg621Trp
NM_005144.5:c.1858C>T MANE Select	NP_005135.2:p.Arg620Trp